Canonical Allele Identifier: CA269543
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 126662
ClinVar RCV Id: RCV001030323
dbSNP Id: rs180177117

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23629173A>C , CM000678.2:g.23629173A>C GRCh38
NC_000016.9:g.23640494A>C , CM000678.1:g.23640494A>C GRCh37
NC_000016.8:g.23547995A>C NCBI36
NG_007406.1:g.17185T>G , LRG_308:g.17185T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2592+31T>G ENSP00000460666.3:n.2592+31T>G
ENST00000565038.2:c.*67+31T>G ENSP00000459882.2:n.*67+31T>G
ENST00000566069.6:c.2586+31T>G ENSP00000459237.2:n.2586+31T>G
ENST00000697377.2:c.2592+31T>G ENSP00000513286.2:n.2592+31T>G
ENST00000697379.2:c.2592+31T>G ENSP00000513287.2:n.2592+31T>G
ENST00000561514.2:c.1701+31T>G ENSP00000460666.2:n.1701+31T>G
ENST00000697374.1:c.1701+31T>G ENSP00000513284.1:n.1701+31T>G
ENST00000697375.1:n.3933+31T>G
ENST00000697376.1:c.1701+31T>G ENSP00000513285.1:n.1701+31T>G
ENST00000697377.1:c.1701+31T>G ENSP00000513286.1:n.1701+31T>G
ENST00000697378.1:n.3106+31T>G
ENST00000697379.1:c.1701+31T>G ENSP00000513287.1:n.1701+31T>G
ENST00000697380.1:n.1878+31T>G
ENST00000697381.1:n.1281+31T>G
ENST00000697382.1:c.1701+31T>G ENSP00000513288.1:n.1701+31T>G
ENST00000697383.1:c.120+31T>G ENSP00000513289.1:n.120+31T>G
ENST00000697384.1:n.2771T>G
ENST00000261584.9:c.2586+31T>G MANE Select ENSP00000261584.4:n.2586+31T>G
ENST00000261584.8:c.2586+31T>G ENSP00000261584.4:n.2586+31T>G
ENST00000565038.1:c.158+31T>G
ENST00000568219.5:c.1701+31T>G ENSP00000454703.2:n.1701+31T>G
NM_024675.3:c.2586+31T>G , LRG_308t1:c.2586+31T>G NP_078951.2:n.2586+31T>G
XM_011545946.1:c.2592+31T>G XP_011544248.1:n.2592+31T>G
XM_011545947.1:c.2592+31T>G XP_011544249.1:n.2592+31T>G
XM_011545948.1:c.1701+31T>G XP_011544250.1:n.1701+31T>G
XR_950851.1:n.3382+31T>G
XM_011545946.2:c.2592+31T>G XP_011544248.1:n.2592+31T>G
XM_011545947.2:c.2592+31T>G XP_011544249.1:n.2592+31T>G
XM_011545948.2:c.1701+31T>G XP_011544250.1:n.1701+31T>G
XM_017023671.1:c.2592+31T>G XP_016879160.1:n.2592+31T>G
XM_017023672.2:c.2586+31T>G XP_016879161.1:n.2586+31T>G
XM_017023673.2:c.2586+31T>G XP_016879162.1:n.2586+31T>G
NM_024675.4:c.2586+31T>G MANE Select NP_078951.2:n.2586+31T>G